小额外标记染色体（sSMC）——基因型与表型的相关性如何？
Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?
作者信息
Liehr Th, Kosyakova N
机构信息
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
出版信息
Tsitologiia. 2013;55(3):165-6.
PMID:23795458
Abstract
Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. Here we review the presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC's sister chromosomes on the clinical outcome.
摘要
小额外标记染色体（sSMC）患者的基因型-表型相关性仍难以评估。在此，我们综述了目前已知的由sSMC大小和来源引起的染色体失衡、sSMC在身体不同细胞中的嵌合现象以及sSMC姐妹染色体的单亲二体性（UPD）对临床结果的影响。
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